Cyp27a1
Gene Detail

Symbol Name ID

Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 MGI:88594

Synonyms

1300013A03Rik, cholesterol 27 hydroxylase, Cyp27

Feature Type

protein coding gene

Genetic Map

Chromosome 1

38.54 cM, cytoband C3
Detailed Genetic Map ± 1 cM


Mapping data(5)

Sequence Map

Chr1:74713574-74737890 bp, + strand From NCBI annotation of GRCm38   24317 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:36040  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 4 zebrafish

Gene Tree: Cyp27a1

Human homologs

Human Homolog		CYP27A1, cytochrome P450, family 27, subfamily A, polypeptide 1
NCBI Gene ID		1593
neXtProt AC		NX_Q02318
Human Synonyms		CP27, CTX, CYP27
Human Chr (Location)		2q33-qter; chr2:219646472-219680016 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human CYP27A1

Alleles and phenotypes

All alleles(4) : Targeted(4)
 

Mice homozygous for a knock-out allele exhibit signifcantly reduced production of bile acids, up-regulation of cholesterol 7alpha-hydroxylase, increased circulating levels of 7alpha-hydroxycholesterol, and somewhat higher serum 25-hydroxyvitamin D levels.

 

Gene Ontology (GO) classifications

All GO classifications: (16 annotations)

Process	cholesterol metabolic process
Component	membrane, mitochondrial envelope, ...
Function	cholestanetriol 26-monooxygenase activity, cholesterol 26-hydroxylase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (4 records)
Data Summary: Results (56)    Tissues (42)    Images (13)
Theiler Stages: 4, 10, 18, 19, 23, 25, 28

Assay Type	Results
RNA in situ	42
RT-PCR	14

cDNA source data(61)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(68) Genomic(4) cDNA(61) Primer pair(3)
Microarray probesets(3)

Other database links

Ensembl Gene Model	ENSMUSG00000026170 (Evidence)
Entrez Gene	104086 (Evidence)
UniGene	85083
DFCI	TC1579146
DoTS	DT.488179, DT.91334831
NIA Mouse Gene Index	U000459
EC	1.14.13.15
Consensus CDS Project	CCDS15054.1
International Mouse Knockout Project Status	Cyp27a1

Sequences

Length	Strain/Species
genomic	104086	NCBI Gene Model | MGI Sequence Detail	24317	C57BL/6J
transcript	NM_024264	RefSeq | MGI Sequence Detail	1890	C57BL/6
polypeptide	Q9DBG1	UniProt | EBI | MGI Sequence Detail	533	Not Applicable

All sequences(18) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(71 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR001128	Cytochrome P450
InterPro	IPR017972	Cytochrome P450, conserved site
InterPro	IPR002401	Cytochrome P450, E-class, group I
Protein Ontology	PR:000006110	cytochrome P450 27, mitochondrial

Graphical View of Protein Domain Structure

References

(Earliest) J:35016 Cali JJ, et al., Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis. J Biol Chem. 1991 Apr 25;266(12):7774-8
(Latest) J:190065 Omarova S, et al., Abnormal vascularization in mouse retina with dysregulated retinal cholesterol homeostasis. J Clin Invest. 2012 Aug 1;122(8):3012-23
All references(59)

Other accession IDs

MGD-MRK-2311, MGI:1922018